Canonical Allele Identifier: CA6581918
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 2046246
ClinVar RCV Id: RCV002913553
dbSNP Id: rs768888133
ExAC: 12:52882330 G / A
gnomAD v2: 12-52882330-G-A
gnomAD v3: 12-52488546-G-A
gnomAD v4: 12-52488546-G-A
COSMIC: COSM940748
MyVariant Identifiers: chr12:g.52882330G>A (hg19) chr12:g.52488546G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488546G>A , CM000674.2:g.52488546G>A GRCh38
NC_000012.11:g.52882330G>A , CM000674.1:g.52882330G>A GRCh37
NC_000012.10:g.51168597G>A NCBI36
NG_008298.1:g.9852C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1206C>T MANE Select ENSP00000369317.3:p.Cys402=
ENST00000330722.6:c.1206C>T ENSP00000369317.3:p.Cys402=
NM_005554.3:c.1206C>T NP_005545.1:p.Cys402=
NM_005554.4:c.1206C>T MANE Select NP_005545.1:p.Cys402=
Search 100 bp 5'
Search 100 bp 3'